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Items: 1 to 20 of 24

1.

Syndactyly

Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are revered to as \ [from HPO]

MedGen UID:
52619
Concept ID:
C0039075
Congenital Abnormality
2.

synpolydactyly

MedGen UID:
893257
Concept ID:
CN238761
Finding
3.

Syndactyly

MedGen UID:
776571
Concept ID:
C2117411
Finding
4.

Synpolydactyly 1

A rare congenital distal limb malformation with the combination of syndactyly and polydactyly. In most cases affects the third and fourth fingers and the fourth and fifth toes bilaterally. Additional features include fifth finger clinodactyly, camptodactyly and/or brachydactyly. Inherited in an autosomal dominant manner. [from SNOMEDCT_US]

MedGen UID:
437845
Concept ID:
C2699746
Congenital Abnormality
5.

Variable expressivity

A variable severity of phenotypic features. [from HPO]

MedGen UID:
348349
Concept ID:
C1861403
Finding
6.

Incomplete penetrance

A situation in which mutation carriers do not show clinically evident phenotypic abnormalities. [from HPO]

MedGen UID:
332247
Concept ID:
C1836598
Finding
7.

Autosomal dominant inheritance

Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous). [from NCI_NCI-GLOSS]

MedGen UID:
141047
Concept ID:
C0443147
Genetic Function; Intellectual Product
8.

polysyndactyly

A rare anatomical malformation characterized by polydactyly (extra fingers or toes) and syndactyly (webbed fingers or toes). [from NCI]

MedGen UID:
78565
Concept ID:
C0265553
Congenital Abnormality
9.

Congenital anomaly of limb

Congenital structural deformities of the upper and lower extremities collectively or unspecified. [from MeSH]

MedGen UID:
60222
Concept ID:
C0206762
Congenital Abnormality
10.

Congenital anomaly of musculoskeletal system

An abnormality of the musculoskeletal system that is present at birth or detected in the neonatal period. [from NCI]

MedGen UID:
57466
Concept ID:
C0151491
Congenital Abnormality
11.

Disorder of bone

Your bones help you move, give you shape and support your body. They are living tissues that rebuild constantly throughout your life. During childhood and your teens, your body adds new bone faster than it removes old bone. After about age 20, you can lose bone faster than you make bone. To have strong bones when you are young, and to prevent bone loss when you are older, you need to get enough calcium, vitamin D, and exercise. You should also avoid smoking and drinking too much alcohol. Bone diseases can make bones easy to break. Different kinds of bone problems include. -Low bone density and osteoporosis, which make your bones weak and more likely to break . -Osteogenesis imperfecta makes your bones brittle . -Paget's disease of bone makes them weak . -Bones can also develop cancer and infections. - Other bone diseases, which are caused by poor nutrition, genetics, or problems with the rate of bone growth or rebuilding. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases.  [from MedlinePlus]

MedGen UID:
14182
Concept ID:
C0005940
Disease or Syndrome
12.

Congenital abnormal Synostosis

A union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue. (Dorland, 27th ed) [from MeSH]

MedGen UID:
11689
Concept ID:
C0039093
Congenital Abnormality
13.

Disorder of musculoskeletal system

A category of diseases that involve muscles and bones. [from NCI]

MedGen UID:
6471
Concept ID:
C0026857
Disease or Syndrome
14.

genetic linkage

The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME. [from MeSH]

MedGen UID:
6102
Concept ID:
C0023745
Molecular Function
15.

Dysostosis

Defective bone formation involving individual bones, singly or in combination. [from MeSH]

MedGen UID:
4430
Concept ID:
C0013393
Disease or Syndrome
16.

Disorder of bone development

Diseases resulting in abnormal GROWTH or abnormal MORPHOGENESIS of BONES. [from MeSH]

MedGen UID:
2309
Concept ID:
C0005941
Disease or Syndrome
17.

Congenital Abnormality

Malformations of organs or body parts during development in utero. [from MeSH]

MedGen UID:
1254
Concept ID:
C0000768
Congenital Abnormality
18.

Synpolydactyly 3

MedGen UID:
344005
Concept ID:
C1853255
Disease or Syndrome
19.

Synpolydactyly 2

MedGen UID:
331290
Concept ID:
C1842422
Disease or Syndrome
20.

Synpolydactyly type 1

MedGen UID:
940458
Concept ID:
CN203278
Disease or Syndrome
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